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52 results
  1. ... may contain more recent information. — ED. Table A. Waardenburg Syndrome Type I: Genes ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. ... Vici syndrome: MedlinePlus Genetics (National Library of Medicine) Waardenburg syndrome: MedlinePlus Genetics ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  3. ... acromelic syndrome</title><other_names ><other_name >Anophthalmia-Waardenburg syndrome</other_name><other_name >Anophthalmia-syndactyly</other_name>< ...
  4. ... Vohwinkel syndrome: MedlinePlus Genetics (National Library of Medicine) Waardenburg syndrome: MedlinePlus Genetics (National Library of Medicine) Weissenbacher-Zweymüller ...
  5. ... SOX 10 -associated leukodystrophy/peripheral and central demyelination, Waardenburg syndrome, and Hirschsprung disease (PCWH) (OMIM 609136 ) is an ... Involvement of the peripheral nervous system (sensory loss) Waardenburg syndrome (skin and hair pigmentation changes, heterochromia iridis, and ...
  6. ... 3 are inherited in an autosomal recessive manner. Waardenburg syndrome is an auditory-pigmentary syndrome with sensorineural hearing ... hair, skin, and eyes. It is debated whether Waardenburg syndrome should be classified as a syndromic form of ...
  7. ... ear. EDN3 EDNRB KITLG MITF PAX3 SNAI2 SOX10 Waardenburg syndrome (WS) (See Waardenburg Syndrome Type I .) SNHL Congenital Variable Most common type ... HL = hearing loss; SNHL = sensorineural hearing loss; WS = Waardenburg syndrome Table 6b. Select Common Causes of Autosomal Recessive ...
  8. ... Syndrome Smith-Magenis Syndrome Sotos Syndrome Trichothiodystrophy Syndromes Waardenburg Syndrome Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome Zellweger Syndrome ...
  9. ... 929 Trisomy 18 Syndrome C16.131.077.938 Waardenburg Syndrome C16.131.077.941 Weill-Marchesani Syndrome C16. ... 673 Quartz Crystal Microbalance Techniques E05.978.808 Reference Standards E05.978.808.249 Fiducial Markers E05. ...
  10. ... 077.899...........................................Trichothiodystrophy Syndromes C16.131.077.938...........................................Waardenburg Syndrome C16.131.077.941...........................................Weill-Marchesani Syndrome C16. ...
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